ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.156G>T (p.Gly52=)

gnomAD frequency: 0.00001  dbSNP: rs753433200
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001247812 SCV001421257 likely benign Neuronal ceroid lipofuscinosis 7 2023-09-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830023 SCV002084806 uncertain significance Late-infantile neuronal ceroid lipofuscinosis 2020-03-20 no assertion criteria provided clinical testing

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